{{Rsnum
|rsid=121912837
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL7A1
|position=48573047
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120120
|rsnum=121912837
|variant=0017
}}{{ClinVar
|rsid=121912837
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48610480
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48610480C>T
|CLNORIGIN=0
|CLNSRCID=
120120.0017
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000018989.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDBN=Epidermolysis bullosa pruriginosa, autosomal dominant
|CLNSRC=OMIM Allelic Variant
|Disease=Epidermolysis bullosa pruriginosa
}}